Dr. Falk is a Clinical Geneticist who serves as executive director of the Mitochondrial Medicine Frontier Program. Her translational research lab investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted therapies, in C. elegans, zebrafish, mouse, and human tissue models of genetic-based respiratory chain dysfunction.
Dr. Weiss' research focuses on epidemiology of pediatric sepsis and mitochondrial dysfunction in sepsis-associated organ injury. The driving hypothesis for his research is that alterations in mitochondrial bioenergetics contribute to organ injury and immune dysregulation in a subset of children with sepsis.
Dr. Ortiz-Gonzalez is a physician-scientist specializing in pediatric neurogenetics. Her clinical work focuses on finding a unifying genetic diagnosis for children with rare neurodevelopmental disorders. Her research is informed by her patients and focuses on understanding how genetic changes, in particular those affecting mitochondrial function, cause disease so we can develop better treatments for these children in the future.
Dr. Nissim is a biochemist and a pioneer in the application of stable isotopes, mass spectrometry, and nuclear magnetic resonance to study metabolome and fluxome and their coupling to genome in normal and disease states. His long-standing interest focuses on understanding the cause, mechanisms, and outcome of metabolic disorders.
Dr. Marsh's research program focuses on understanding how changes in brain development lead to epilepsy, intellectual disability, and autism. He combines molecular and physiological tools in mouse models to ask questions about the interaction of normal development with single gene mutations to determine how the brain responds to perturbations in development.
New preclinical findings from extensive cell and animal studies suggest that a drug already used for a rare kidney disease could benefit patients with some mitochondrial disorders—complex conditions with severe energy deficiency for which no proven effective treatments exist. Future clinical research is needed to explore whether the drug, cysteamine bitartrate, will meaningfully benefit patients.